Canonical Allele Identifier: CA355908338

Gene: PDE6B

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.634791A>T , CM000666.2:g.634791A>T	GRCh38
NC_000004.11:g.628580A>T , CM000666.1:g.628580A>T	GRCh37
NC_000004.10:g.618580A>T	NCBI36
NG_009839.1:g.14218A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000283.4:c.583A>T MANE Select	NP_000274.3:p.Lys195Ter
ENST00000496514.6:c.583A>T MANE Select	ENSP00000420295.1:p.Lys195Ter
NM_000283.3:c.583A>T	NP_000274.2:p.Lys195Ter
NM_001145291.1:c.583A>T	NP_001138763.1:p.Lys195Ter
NM_001145291.2:c.583A>T	NP_001138763.2:p.Lys195Ter
ENST00000255622.10:c.583A>T	ENSP00000255622.6:p.Lys195Ter
ENST00000496514.5:c.583A>T	ENSP00000420295.1:p.Lys195Ter
XM_011513473.1:c.802A>T	XP_011511775.1:p.Lys268Ter
XM_011513473.3:c.802A>T	XP_011511775.1:p.Lys268Ter
XM_011513474.1:c.802A>T	XP_011511776.1:p.Lys268Ter
XM_011513474.3:c.802A>T	XP_011511776.1:p.Lys268Ter
XM_011513475.1:c.583A>T	XP_011511777.1:p.Lys195Ter
XM_011513475.2:c.583A>T	XP_011511777.1:p.Lys195Ter
XM_011513476.1:c.802A>T	XP_011511778.1:p.Lys268Ter
XM_011513476.3:c.802A>T	XP_011511778.1:p.Lys268Ter